我们评估了10名接受burosumab治疗的X连锁低磷酸盐血症(XLH)成年人的肌肉功能的多种成分。下肢力量(+9%),短物理性能电池(SPPB)得分(+1.2分),治疗6个月后,身体活动(+65%)增加,在治疗6至12个月之间,手握力增加(+10%)。
目的:X连锁低磷酸盐血症(XLH)是一种罕见的磷酸盐代谢遗传疾病。Burosumab是一种单克隆抗体治疗,当用作成人XLH的疗法时,可改善磷酸盐稳态并改善症状以及骨折愈合。然而,关于其对先前在XLH中报道的身体功能多个组成部分的巨大缺陷的影响知之甚少。
方法:10名成年人(6名女性,年龄41.1±15.7岁)从伦敦和布里斯托尔的专科中心招募。在初次布罗塞马治疗的临床就诊期间以及6个月和12个月的随访期间,物理功能,和身体活动(PA)评估。详细来说,下肢力量通过机械摄影术通过反运动跳跃进行评估,短物理性能电池(SPPB)的移动性,通过6分钟步行测试(6MWT)的功能容量,通过手握力测量法测量上肢力量,和PA通过国际身体活动问卷(IPAQ)。基线和6个月随访之间的差异,在随访6至12个月的5名患者中,被评估。
结果:从基线到6个月,下肢力量增加了9%(P=0.049),SPPB得分也是如此(+1.2分,P=0.033)和总PA(+65%,P=0.046),尽管握力和6MWT没有差异。仅对于手抓地力有显著改善(+10%,P=0.023)在6到12个月之间观察到。
结论:Burosumab治疗可改善6个月时的下肢功能和活动能力,12个月时手握力的改善。未来的研究应该探索潜在的机制,并描述功能和其他患者的结果。
We assessed multiple components of muscle function in ten adults with X-linked hypophosphatemia (XLH) receiving burosumab treatment. Lower limb power (+ 9%), short physical performance battery (SPPB) score (+ 1.2 points), and physical activity (+ 65%) increased following 6 months of treatment, and hand grip increased (+ 10%) between 6 and 12 months of treatment.
OBJECTIVE: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism. Burosumab is a monoclonal antibody treatment shown to improve phosphate homeostasis and improve symptoms as well as fracture healing when used as a therapy for XLH in adults. However, little is known about its effects on the large deficits in multiple components of physical function previously reported in XLH.
METHODS: Ten adults (6 females, age 41.1 ± 15.7 y) were recruited from specialist centres in London and Bristol. During clinical visits for initial burosumab treatment and at 6-month and 12-month follow-up, physical function, and physical activity (PA) assessments were performed. In detail, lower limb power was assessed by mechanography via a countermovement jump, mobility by short physical performance battery (SPPB), functional capacity by 6-min walk test (6MWT), upper limb strength by hand grip dynamometry, and PA via an International Physical Activity Questionnaire (IPAQ). Differences between baseline and 6-month follow-up, and in a subset of 5 patients between 6- and 12-month follow-up, were assessed.
RESULTS: Lower limb power increased by 9% (P = 0.049) from baseline to 6 months, as did SPPB score (+ 1.2 points, P = 0.033) and total PA (+ 65%, P = 0.046) although hand grip and 6MWT did not differ. Only for hand grip was a significant improvement (+ 10%, P = 0.023) seen between 6 and 12 months.
CONCLUSIONS: Burosumab treatment is associated with improved lower limb function and mobility at 6 months, with improvement in hand grip strength at 12 months. Future studies should explore the underlying mechanisms and describe on function and other patient outcomes.